Stylianos E. Antonarakis
President, 2013-Present (Current)
Stylianos E. Antonarakis is currently Professor and Chairman of Genetic Medicine at the University of Geneva Medical School, and the founding director of iGE3 (institute of Genetics and Genomics of Geneva). He is a medical, molecular, human geneticist, physician-scientist, who studied extensively the relationship between genomic and phenotypic variation. He received his MD (1975) and DSc (1982) from the University of Athens Medical School, and after a specialization in Pediatrics in the University Hospital, Athens Greece, he moved to Baltimore, Maryland to the program of Medical Genetics at the Johns Hopkins University School of Medicine with Haig H. Kazazian and Victor McKusick (1980-1983). He joined the faculty of the Johns Hopkins University in 1983 and rose to full professor of Pediatric Genetics, Biology and Medicine in 1990. In 1992 he moved to Geneva, Switzerland to chair Genetic Medicine in the University of Geneva. His research work includes the molecular bases of monogenic disorders and complex genetic disorders including the beta-thalassemias, hemophilias, and trisomy 21. His laboratory participated in the human genome sequence and functional analysis, particularly on chromosome 21. He is an international expert on disorders of chromosome 21, cloning of genes for genetic disorders, development of diagnostic tests, genome structure and function, studies of the genome variability, and conserved non-coding sequences in human DNA. He has published extensively (more than 620 well-cited papers) in the scientific literature, and is co-editor of the current edition of the classic textbook “Genetics in Medicine”; he is listed as one of the highly cited scientists by the ISI institute (more than 40,000 citations; h-index 99). He was the President of the European Society of Human Genetics (2001-2002), member of the HUGO Council and President Elect of HUGO for 2013-2016, foreign member of the Academy of Athens (2003), member of EMBO (2006). He was the co-organizer of the European School of Genetic Medicine, and in the last 28 years taught in the Bar Harbor Genetics Course, Maine. He was awarded the Society of Pediatric Research Young Investigator Award (1984), International Jerome Lejeune Prize (2004), the European Society of Human Genetics Award (2005), and was elected to the Society of Scholars of the Johns Hopkins University (2006), and the American Academy of Physicians (2010). He was awarded the Commander of the Order of Phoenix medal from the Hellenic Democracy (2007). More than 70 talented young scientists were trained in his laboratory (graduate students and postdoctoral fellows); in addition more than 25 young physicians were trained in the Medical Genetics Clinic of his department. With Haig Kazazian he has established one of the first molecular diagnostic laboratories in USA as early as 1982. He is a member of the Swiss National Science Foundation Research Council, and the Chair of the Genetics Review Panel of the EU ERC. His research laboratory was/is supported by grants from the National Institutes of Health, the European Union (including the European Research Council), and the Swiss National Science Foundation and numerous other Foundations including the Gebert and Lejeune Foundations. His is the originator of the World Down Syndrome Day. His current interests and research projects are the functional analysis of the genome, effect of human genetic variation to phenotypic variation, the molecular pathogenesis of trisomy 21 and polygenic phenotypes, the functional characterization of the conserved fraction of the genome, diagnostics and prevention of genetic disorders, and the societal implications of genetics and genome research.
Karen B. Avraham, Israel (2016-2018/ Term 2)
Prof. Karen B. Avraham is Vice Dean at the Sackler Faculty of Medicine and Professor of Human Genetics in the Department of Human Molecular Genetics and Biochemistry at Tel Aviv University. Born in Canada and raised in the U.S., Dr. Avraham received her B.A. degree in Biology from Washington University in St. Louis, Missouri, U.S., went on to perform her Ph.D. at the Weizmann Institute of Science in Rehovot, Israel and completed her post-doctoral training at the National Cancer Institute in Frederick, MD, U.S. At Tel Aviv University, Prof. Avraham’s research has centered on the discovery of disease genes, focusing on hereditary hearing loss. Her team takes a comprehensive approach to study the molecular basis of hearing loss, using genetic, developmental, biochemical, cellular and bioinformatic tools. She leads the effort in exome sequencing for the discovery of disease genes to identify mutations that are relevant for the hearing-impaired population. Her group has demonstrated that microRNAs are essential for development and function of inner ear hair cells in vertebrates through microRNA expression, mouse mutants and target identification. Prof. Avraham’s work has led to 83 peer-reviewed manuscripts and 43 reviews and book chapters. She was awarded the Sir Bernard Katz Prize from the Alexander-von Humboldt Foundation in Germany, the Bruno Memorial Prize from the Rothschild Foundation in Israel and in 2011, the Teva Prize for Groundbreaking Research in the Field of Rare Diseases from Teva Pharmaceuticals Industries in Israel.
Piero Carninci, Japan (2015-2017/ Term 1)
Born and Educated in Italy he obtained his doctoral degree at the University of Trieste in 1989. From 1990 to 1995 he developed technologies for DNA extraction and DNA sequencing at Talent, a spin-off biotech.
He moved to Japan in 1995 at RIKEN, Tsukuba Life Science center and became tenure researcher in 1997. He has been developing technologies to capture full-length cDNAs, which were used for the construction of the Fantom projects. Between 2008 and 2013, he was a Team and Unit Leader and a Deputy Project Director at the RIKEN Omics Science Center in Yokohama. He has developed technologies to analyze the transcribed part of the genome (transcriptome), such as the cap-trapper and the CAGE. These technologies have been broadly used in the RIKEN Fantom projects and allowed identifying non coding RNAs as are the major output of the mammalian genome and providing comprehensive maps of the mammalian promoters. Additionally he developed a miniaturization of CAGE, in order to approach biological problems that for which there is limited amount of starting material.
From April in 2013, he is a Director of the Division Genomics Technologies and a Deputy Director of Center for Life Science Technologies, RIKEN. He has published more than 230 papers and book chapters, edited books and is a member of editorial boards of various scientific journals.
Ruth Chadwick, UK (2014-2016/ Term 2)
Ruth Chadwick (BA, BPhil, DPhil, LLB, FSB, FRSA, AcSS) was educated at Oxford University, where she studied first for a BA in Literae Humaniores (Greek and Latin Literature and Philosophy), achieving First Class Honours. Following that she studied at Oxford for the B.Phil. in Philosophy, which was awarded in 1976. From 1976-7 Ruth held a lecturer post at Trinity College, Oxford. She then wrote her D.Phil on ‘The ethics of eugenics and genetic engineering’, supervised by Jonathan Glover and a Genetics supervisor, Dr. David Roberts. After leaving Oxford, Ruth taught Philosophy first at Liverpool University, and then at S. Martin’s College Lancaster. While there she studied for a University of London (external) Law degree in her spare time, which was awarded in 1986. In 1987 she moved to Cardiff, where she taught in the Philosophy Department until 1993, when she was appointed to a Chair at the University of Central Lancashire. In 1994 Ruth became Head of the Centre for Professional Ethics at the University. During this period Ruth co-ordinated a number of projects funded by the European Commission, including the EUROSCREEN projects (1992-4; 1996-9) on the ethics of genetic screening. In 2000 Ruth moved to Lancaster University as Professor of Bioethics, where she became Director of the Institute for Environment, Philosophy and Public Policy, before winning, as Principal Investigator, funding from the UK Economic and Social Research Council (ESRC) for the establishment of Cesagen (the Centre for Econonic and Social Aspects of Genomics). The Centre was set up as a collaboration between Cardiff and Lancaster, and in 2006 Ruth moved from Lancaster to the Cardiff site as Distinguished Research Professor with a Link Chair between Cardiff Law School and the School of English, Communication and Philosophy (ENCAP), in addition to being Director of Cesagen. Her publications have focused primarily on issues in genetics, professional ethics, food ethics, and the philosophy of Immanuel Kant, including Ethics, Reproduction and Genetic Control (1987); (with Win Tadd) Ethics and Nursing Practice (1992); (ed.) Kant: Critical Assessments (infour volumes, 1992); (ed.) with Mairi Levitt and Darren Shickle The Right to Know and the Right not to Know (1997); Ruth Chadwick et al. Functional Foods (2003); and over 100 papers in journals and books. She was editor-in-chief of the award winning Encyclopedia of Applied Ethics (1998), of which a second edition has now been published (2011). She co-edits the journal Bioethics and the online journal Life Sciences, Society and Policy and is a member of the editorial boards of 8 other journals, including commissioning editorial member for ethics of the British Medical Bulletin. She is a member of the Council of the Human Genome Organisation (HUGO) and chairs their Committee on Ethics, Law and Society. She has also served as a member of several policy-making and advisory bodies, including the UK Food Ethics Council, the Panel of Eminent Ethical Experts of the Food and Agriculture Organisation of the United Nations (FAO), and the UK Advisory Committee on Novel Foods and Processes (ACNFP). She is an Academician of the Academy of Social Sciences and a Fellow of the Hastings Center, New York; a Fellow of the Society of Biology; of the Royal Society of Arts; and of the Royal Society of Medicine. In 2005 she was the winner of the World Technology Network Award for Ethics for her work on the relationship between scientific developments and ethical frameworks.
Aravinda Chakravarti, USA (2014-2016/ Term 2)
Aravinda Chakravarti, Ph.D. is Director, Center for Complex Disease Genomics and Professor of Medicine, Pediatrics, Molecular Biology & Genetics, and, Biostatistics at the Johns Hopkins
University School of Medicine and the Bloomberg School of Public Health. He is the immediate Past- President of the American Society of Human Genetics, a member of the US National Academy’s Institute of Medicine, an Honorary Fellow of the Indian Academy of Sciences, and, the receipient of the Allan Award from the American Society of Human Genetics in 2013. He has been a key participant and architect of the Human Genome, HapMap and 1000 Genomes project.
Aravinda received his undergraduate degree in Statistics and Mathematics from the Indian Statistical Institute in Calcutta, India in 1974, his doctoral degree in human genetics from the University of Texas Health Science Center in Houston in 1979 and continued postdoctoral training at the University of Washington in Seattle during 1979-80. He started his faculty career at the University of Pittsburgh (1980 – 1993), was the James H. Jewell Professor of Genetics at Case Western Reserve University (1994-2000), and the inaugural Director and Henry J. Knott Professor of the McKusick-Nathans Institute of Genetic Medicine at Johns Hopkins (2000-2007). Dr. Chakravarti is one of the founding Editors-in-Chief of Genome Research and Annual Reviews of Genomics & Human Genetics, serves on the Advisory and Editorial Boards of numerous international journals, boards, academic societies, the NIH and biotechnology companies. His research is aimed at genome-scale analysis of humans and computational analysis of gene variation and function to understand the molecular genetic basis of human disease.
Dr. Chakravarti has also been working with Indian scientists and the Government of India (DBT and CSRI) since 2000 to help develop the genetic and genomic sciences in India. He has been instrumental in championing efforts to establish the new National Institute of BioMedical Genomics in Kalyani, West Bengal and India’s participation in the International Cancer Genome Atlas. Starting in 2010, he has been working with Dr. Purnendu Chatterjee and Mr. Swadesh Chatterjee (in cooperation with Johns Hopkins University) to establish The Institute of Molecular Medicine (IMM) as a private, not-for-profit research and educational institution in Delhi, India, for which he is Scientific Director. He is also on the Selection Committee for the DBT-Wellcome Trust India Alliance, a program to identify and support the research careers of outstanding scholars in the biomedical sciences in India.
Eva Cutiongco De La Paz, Philippines (2016 - 2018 / Term 1)
Dr. Eva Maria C. Cutiongco-de la Paz is the Vice Chancellor for Research, University of the Philippines (UP) Manila and the Executive Director of the National Institutes of Health. She finished her Doctor of Medicine degree from the UP College of Medicine in 1989 and completed her Pediatric residency at the Philippine General Hospital in 1992. She had her research fellowship in Molecular Genetics at the International Center for Medical Research at the Kobe University Graduate School of Medicine in Japan and took her subspecialty training in Clinical Genetics at The Hospital for Sick Children, University of Toronto, Canada. She was board certified as a Fellow by the Canadian College of Medical Geneticists in 2000.She is also currently the Program Director for the Genomics Health Program of the Philippine Genome Center. Her current research interests include genetics of monogenic and complex genetic conditions in the Filipino population such as birth defects, cancer, diabetes mellitus, X-linked Dystonia Parkinsonism as well as population genetics, particularly, genetic diversity studies on Indigenous Peoples.
Kartiki Desai, India (2015 – 2017 / Term 2)
Dr. Kartiki V. Desai is an Associate Professor at the National Institute of Biomedical Genomics, Kalyani. She completed her Ph.D. in Molecular Endocrinology from the Indian Institute of Science, Bangalore (1994-1999). She was a post-doctoral fellow at the National Cancer Institute (NIH) where she analyzed and compared gene expression profiles of several rodent models of human breast and prostate cancer (1999-2005). As a Research Scientist at the Genome Institute of Singapore, she identified novel therapeutic targets in breast cancer by integrating bioinformatics tools with clinical data, followed by High-Content Screening and deep functional validation of each candidate that associated with poor disease outcome (2006-2011). Her current interest is to develop genetic signatures of prognostic and predictive value in Indian breast and colon cancer patients and in next generation re-sequencing analysis of mutations in archival formalin-fixed paraffin embedded (FFPE) samples. She served on the HUGO council (2011-2014)and is an Associate Editor for Frontiers in Cancer Genetics.
Ada Hamosh, USA (2016-2018 / Term 2)
After completing medical school at Georgetown University, and residency in Pediatrics, an MPH from the Bloomberg School of Public Health, followed by fellowship in clinical and biochemical genetics at Johns Hopkins Hospital, Ada Hamosh, MD, MPH, joined the faculty of the McKusick-Nathans Institute of Genetic Medicine (IGM)of the Johns Hopkins University in 1992. She became the Dr. Frank V. Sutland Chair of Pediatric Genetics there in 2007. Her lifelong interest is in genotype-phenotype correlations and the molecular basis of mendelian disorders, beginning with cystic fibrosis, but expanding to becoming Scientific Director of Online Mendelian Inheritance in Man (OMIM®) since 2002. She is clinical director of the IGM, and has brought a primary care model to genetics practice. In addition, over the past several years, she has developed PhenoDB, a web-based tool for the collection, storage and analysis of phenotypic information, as well as variant filtering and analysis developed for the NHGRI funded Centers for Mendelian Genomics, but with broad applicability to any clinical or research lab pursuing whole exome/genome sequencing technologies. Her dream is to integrate standardized family history, phenotyping and genomic data to enable point of care support to diagnose and manage genetic disease.
Alfredo Hidalgo Miranda, Mexico (2015 – 2017 / Term 2)
Dr. Alfredo Hidalgo Miranda was born in Mexico City in 1973, he earned a degree in Biology with honors, at the National Autonomous University of Mexico in 1997. In 2005, he earned a PhD in Biomedical Sciences at the Faculty of Medicine National Autonomous University of Mexico. His thesis was focused on the analysis of chromosomal alterations during the progression of cervical carcinoma.Between 1997 and 1999 he served as a visiting researcher at the Laboratory of Molecular Oncology, Institute of Pathology Von Virchow, University Von Humboldt in Berlin, Germany, where he conducted studies of comparative genomic hybridization on metaphases for analysis of patterns alterations in DNA copy number in the uterine cervix tumors and brain metastases of solid tumors. In 2004 he joined the National Institute of Genomic Medicine, where he has participated in various projects, such as the analysis of the genomic diversity of the Mexican population and the establishment of the High Technology Units INMEGEN. The line of research by Dr. Hidalgo Miranda in the Laboratory of Cancer Genomics INMEGEN is focused on the systematic identification of somatic alterations in the genome and transcriptome of human tumors, with particular emphasis on tumors of the mammary gland. To this end, we are analyzing the profiles of alterations in DNA copy number, global expression profiles of messenger RNA and the expression profiles of microRNAs in tumors and normal breast tissues. Recently, through the use of new generation sequencing was carried out by genome sequence analysis and full exome in breast tumors. These studies have resulted in the identification of various genomic alterations whose role has not been previously described in this tumor. Currently, in addition to continuing with the analysis of somatic alterations, it is exploring the biological function of various targets identified by genomic technologies. Finally, in an effort to translate the molecular findings in applications with potential clinical use, it is working in the classification of breast tumors into subgroups specific risk based on gene expression profiles and are developing protocols for next-generation sequencing to identify mutations for selecting treatments targeted at various types of neoplasms. Besides working in breast cancer, Dr. Hidalgo's group has been involved in the analysis of complete genome sequence of hematological malignancies (lymphoma), head and neck tumors and tumors of the uterine cervix, as well as the development of new tools data analysis of next generation sequencing to identify mutations in human tumors, as part of the Slim Initiative for Genomic Medicine (SIGMA Project), a collaboration between the Broad Institute of Harvard and MIT, and the Institute Carlos INMEGEN Slim Health (ICSS).
The research on which Dr. Hidalgo has participated have been cited over 1000 times in the international literature. It has an appointment as National Researcher Level I of the National System of Researchers (SNI) and since 2012, Dr. Hidalgo is part of the Board of the World Organization of Human Genome.
Charles Lee, USA
Charles Lee, Ph.D. is Director and Professor of the Jackson Laboratory for Genomic Medicine in Farmington, Connecticut, USA. Dr. Lee also holds an honorary Professorship at the Chinese University of Hong Kong and is a Visiting Professor at Seoul National University in South Korea.
Dr. Lee received his doctoral degree from the University of Alberta, Canada in 1996 and was subsequently an NSERC research fellow at the University of Cambridge, UK. He then completed his Clinical Cytogenetic fellowship at Harvard Medical School, USA and became board certified by the American Board of Medical Genetics in 2002. Dr. Lee has authored over 130 publications and serves as an advisor for several scientific and policy committees including the 1000 Genomes Project, the International Collaboration for Clinical Genomics Consortium and the US Food and Drug Administration (FDA). He is also a standing reviewer for the Genes, Health and Development Study Section at the National Institutes of Health. Dr. Lee was previously Chair of the American Society of Human Genetics Program Committee and former Associate Editor of the American Journal of Human Genetics.
Dr. Lee is the recipient of several scientific honors including a scientific Team Award from the American Association for Cancer Research, the C. Thomas Caskey lectureship from the University of South Carolina, the Ho-Am Prize in Medicine, the George Brumley Jr. Memorial Award from Duke University, and the Vandenberge Visiting Chair from the Center for Human Genetics - Katholic University of Leuven in Belgium. In 2012, Dr. Lee received the Chen New Investigator award from HUGO.
The research in Dr. Lee’s laboratory centers on the study of structural genomic variation and its contribution to understanding human diseases.
Klaus Linpaintner, USA (2015-2017/ Term 1)
Klaus Lindpaintner, MD, MPH, FACP serves as Chief Scientific Officer at Thermo Fisher Scientific, the world’s leading provider of analytical instruments, reagents, and services supporting scientists. Previ-ously, he held senior positions at Hoffman-La Roche, where he spearheaded the company’s efforts in personalized health care and was responsible for the respective activities in translational research that have rebranded the company’s image; at SDIX, a specialty-antibody-focused biotechnology company; and on the faculty of Harvard Medical School. Klaus has co-authored more than 250 scientific papers, and holds honorary and adjunct professorships at several academic institutions, including Stanford, Uni-versity of London, and JiaoTong University in Shanghai. He serves on numerous boards, working groups, and advisory panels for trade organizations, regulatory authorities, and non-governmental organizations on issues related to the successful implementation and leverage of novel technologies in health care and industrial applications, as well as on the ethical and societal impact of these technologies. Klaus gradu-ated from Innsbruck University Medical School with a degree in medicine, and from Harvard University with a degree in public health. He pursued post-graduate training and specialization in internal medi-cine, cardiology, and clinical and molecular genetics in the US and Germany, and is a Diplomate of the Boards in these specialties.
Edison Liu, USA
Dr. Edison Liu is the newly appointed president and CEO of The Jackson Laboratory. Dr. Liu joins the Laboratory from the Genome Institute of Singapore. As founding executive director, Dr. Liu built the GIS from a staff of three into a major research institute of 27 laboratory groups and a staff of 270, with faculty in functional genomics, computational biology, population genetics and genome-to systems biology. Before moving to Singapore in 2001, he was the scientific director of the National Cancer Institute's Division of Clinical Sciences in Bethesda, Md.
Born in Hong Kong in 1952, Edison Liu obtained his B.S. in chemistry and psychology, as well as his M.D., at Stanford University. He served his internship and residency at Washington University's Barnes Hospital in St. Louis, followed by an oncology fellowship at Stanford. From 1982 to 1987 he was at the University of California, San Francisco, first in a haematology fellowship at Moffitt Hospital and then as a postdoctoral fellow in the laboratory of Nobel laureate J. Michael Bishop, while also serving as an instructor in the School of Medicine. From 1987 to 1996 he was at the University of North Carolina at Chapel Hill, where he rose to director of the UNC Lineberger Comprehensive Cancer Centre's Specialized Program of Research Excellence in Breast Cancer, the director of the Laboratory of Molecular Epidemiology at UNC's School of Public Health, chief of medical genetics, and chair of the Correlative Science Committee of the national cooperative clinical trials group, CALGB. Dr. Liu also held faculty positions in the UNC departments of medicine, epidemiology, biochemistry and biophysics, and in the curriculum in genetics. Dr. Edison Liu was born in Hong Kong, China, and immigrated to the United States in 1957. He received his bachelor's degree (Phi Beta Kappa) in chemistry and psychology from Stanford University where he remained to complete his M.D. in 1978. This was followed by internship and residency in internal medicine at Washington University, St. Louis, and clinical cancer fellowships at Stanford University (Oncology), and at the University of California at San Francisco (Haematology). He then pursued post-doctoral studies as a Damon-Runyan Cancer Research Fellow at the University of California at San Francisco in the laboratory of Dr. J. Michael Bishop identifying transforming genes in human leukemic states. In 1987, he joined the faculty of Medicine at the University of North Carolina at Chapel Hill. There, he developed programs in leukaemia and breast cancer research centring on molecular epidemiology and cell signalling. In 2001, Dr. Liu assumed the position of Executive Director, Genome Institute of Singapore which is a flagship programme of the Biomedical Sciences Initiative of Singapore. At the GIS, he is building an international research institute of 300 individuals focused on integrating genomic sciences with cell and medical biology. His scientific investigations have spanned molecular epidemiology to molecular biochemistry of human oncogenes and his current scientific research investigates the dynamics of whole genome gene transcription that explains biological states in cancer.
Partha Majumder, India (2015 – 2017 / Term 2)
Partha P. Majumder is the founding Director of the National Institute of Biomedical Genomics, Kalyani, West Bengal, and concurrently a Professor in the Indian Statistical Institute, Kolkata. He has pioneered the development of many statistical methods in the analysis of human genome diversity and genetic epidemiology. He has also made many significant contributions on genetics of various human diseases, including cancer. He is currently the co-ordinator of the Indian Project of the International Cancer Genome Consortium. The Indian Project Team has recently identified the genes and mutations that drive gingivo-buccal oral cancer, which are predominantly tumour suppressors. He is an elected Fellow of all the three science academies of India and of TWAS (The World Academy of Sciences, Trieste) and the International Statistical Institute. He is a recipient of many awards and medals, including the TWAS Biology Prize – 2009, G.D. Birla Award for Scientific Research – 2002, Ranbaxy Research Award in Applied Medical Sciences – 2000, and the New Millennium Science Gold Medal, Government of India, 2000.
Julie Makani, Tanzania (2015 – 2017 / Term 2)
Julie Makani is a Wellcome Trust Research Fellow and Senior lecturer at Muhimbili University http://www.muhas.ac.tz, the main clinical, academic and research centre in Tanzania. Dr Makani trained in Medicine (Tanzania) and Internal Medicine (UK), and completed her PhD in sickle cell disease (SCD). She is a Member of the Royal College of Physicians (UK) and research fellow, Oxford University www.ndm.ox.ac.uk/researcher/juliemakani. In 2009 she was awarded the Archbishop Desmond Tutu Leadership Fellowship www.alinstitute.org for promoting biomedical science in Africa.She received the 2011 Royal Society Pfizer Award for her work in using anaemia in SCD as a model of translating genetic research into health benefit.In 2012 she was elected a Fellow of Tanzania Academy of Sciences and 2013 became a Fellow of the Royal College of Physicians of London.
With support from the Wellcome Trust, Muhimbili has established framework for healthcare and genomic research with a focus onSCD. SCD is recognised as a ‘perfect model’ to test the paradigm of translating genome-based knowledge into health benefits; it is a monogenic disorder, shows considerable phenotypic variation and public health significance.Tanzania intends to use SCD as a model to establish solutions that are locally relevant and globally significant, illustrating those effective, global partnershipscan achieve significant advances in health and biomedical science.
John Mattick, Australia (2015–2017 / Term 2)
John Mattick is Director of the Garvan Institute of Medical Research. He trained at the University of Sydney and Monash University, and subsequently worked at Baylor College of Medicine in Houston, the CSIRO Division of Molecular Biology in Sydney, and the University of Queensland, where he was the Foundation Director of the Institute for Molecular Bioscience and the Australian Genome Research Facility. He has also spent sabbatical periods at the Universities of Cambridge, Oxford, Cologne and Strasbourg. Professor Mattick's honours include the Biotechnology Medal of the Australian Biochemical Society, Honorary Fellowship of the Royal College of Pathologists of Australasia, the Australian Government Centenary Medal, the inaugural University of Strasbourg Gutenberg Professorship, and the IUBMB Medal. He is an Associate Member of EMBO and a Fellow of the Australian Academy of Science, and was appointed an Officer in the Order of Australia in 2001.
Stefan Mundlos, Germany (2016 - 2018 / Term 1)
Stefan Mundlos is currently Professor and Chairman of the Institute for Medical and Human Genetics at the Charité, Berlin’s Medical School, and head of the research group Development & Disease at the Max Planck Institute for Molecular Genetics in Berlin. He received his MD (1985) and Dr. med. (1987) from the University of Heidelberg, Germany. After a specialization in Pediatrics in the University Hospital of Mainz, Germany, he moved to Melbourne to work and train in the Murdoch Institute, followed by a research period at the Harvard Medical School in the Dept. of Cell Biology with Prof. Bjorn Olsen. In 1996 he moved back to the University of Mainz and became appointed Professor at the Institute for Human Genetics in Heidelberg in 1999. In 2000 he moved to Berlin to his present position. His lifelong interest is in genotype-phenotype correlations and the molecular basis of Mendelian disorders with a particular focus on congenital malformations and skeletal disease. He discovered numerous disease genes and has a special interest in understanding the developmental biology of mutations. He was awarded the Adalbert-Czerny Award (1997), Pierre Maroteaux award (2009), will receive the European Society of Human Genetics Award in 2016, and was elected to the Deutsche Akademie für Naturforscher ‚Leopoldina’ (2006), and the Berlin-Brandenburger Akademie der Wissenschaften (2014). His current interests and research projects are focused on the function of non-coding DNA in gene regulation and disease, the functional in vivo analysis of structural variations, as well as the development of tools for the diagnostics of genetic disorders.
Carmencita Padilla, Philippines (2016-2018 / Term 2)
Dr. Padilla is Professor of Pediatrics at the College of Medicine and currently Chancellor of University of the Philippines Manila (www.upm.edu.ph). Recognizing her varied contributions to the academic growth of genetics in the Philippines, she was conferred Academician of the National Academy of Science and Technology in 2008. Dr. Padilla is a pioneer in genetics in the Philippines and the Asia Pacific region. In the Philippines, she is responsible for setting up the clinical genetic services at the Philippine General Hospital in 1990 and the various genetic laboratories now housed at the Institute of Human Genetics – National Institutes of Health Philippines. She is also responsible for setting up of national newborn screening services in the Philippines, currently available in 5700+ health facilities in the country. In the Asia Pacific region, she is part of the pioneering group that established the Asia Pacific Society for Human Genetics and served as president in 2008-2010. Dr. Padilla is Council member of the Human Genome Organization, an international organization of scientists from 69 countries. She is Vice President and Treasurer of the International Society for Neonatal Screening. In 2010, she was appointed country representative to the InterAcademy Medical Panel, a global network of more than 60 academies in the world. Dr. Padilla has been a recipient of numerous awards. Dr Padilla has more than 100 publications. In the area of policy making, she is responsible for the Newborn Screening Act of 2004. She is currently lobbying for the passage of Rare Disease Act.
Heidi Rehm, USA (2015-2017/ Term 1)
Heidi L. Rehm, PhD, FACMG began building the CLIA-certified Laboratory for Molecular Medicine in 2001 after completing her graduate degree in Genetics from Harvard University and her postdoctoral and fellowship training at Harvard Medical School. The lab focuses on the rapid translation of new genetic discoveries into clinical tests and bringing novel technologies and software systems into molecular diagnostics to support the integration of genetics into clinical use. The laboratory has been a leader in translational medicine, launching the first clinical tests for cardiomyopathy and lung cancer treatment. The lab offers whole genome and exome sequencing services for both clinical diagnostics and to support several genomic medicine research projects including the MedSeq and BabySeq projects. Dr. Rehm is also involved in defining standards for the use of next generation sequencing in clinical diagnostics and the interpretation of sequence variants through her committee roles at the American College of Medical Genetics and Genomics. Dr. Rehm is also one of several principal investigators of a major NIH-funded effort called ClinGen (Clinical Genome Resource) to support broad sharing of genotype and phenotype data and clinical annotations of genetic variants.
Juergen Reichardt, Australia (2016-2018 / Term 2)
Juergen Reichardt has a long and distinguished career in gene discovery and, more recently the functional assessment of DNA variants. Examples of these include: cloning of the gene for classic galactosemia encoding galactose-1-phosphate uridyl transferase (GALT) with Nobel-prize winner Paul Berg in 1988 at Stanford. Reporting the first galactosemia mutations with Savio Woo in 1991 while at Baylor. Cloning the human gene for epimerase-deficiency galactosemia (UDP-glucose 4’ epimerase; GALE) in 1995. Reporting the first association between genetic variants in the human steroid 5-reductase type II (encoded by the SRD5A2 gene) and prostate cancer in 1999. He identified and characterized significant biochemical and pharmacogenetic variation in human steroid 5-reductase type II (encoded by the SRD5A2 gene) in 2000. He also discovered common somatic mutations in prostate cancer in the human steroid 5-reductase type II (SRD5A2) gene in 2004.
He was on the faculty at USC (the University of Southern California) for 13 years. Juergen arrived in 2005 in Australia as the Plunkett Chair of Molecular Biology (Medicine) in Sydney where he continued many of his investigations as well as branching out into new areas by establishing new collaborations in Australia particularly in relationship to complex genetic traits, especially heart disease. Juergen was the Head of School, Pharmacy and Molecular Sciences at James Cook University. Furthermore, he has served as the Associate Dean Research for the Faculty of Medicine, Health and Molecular Sciences at James Cook University. In January 2016, Juergen will take up the position of Vice Chancellor, Research and Innovation at YachayTech University in Ecuador, the first research-intensive university in Latin America which is modelled on CalTech.
Juergen Reichardt has coauthored some 150 peer-reviewed publications and has held uninterrupted external funding for some 20 years on two continents. He also serves on the Council of HuGO, the Human Genome Organization, has coorganized various international meetings, incl. the HGM 2012 (Human Genome Meeting 2012 in Sydney; Australia) and a series of PacRim Breast and Prostate Cancer Meetings in 3 different countries, he was a visiting professor at many universities, incl. Rome in 2013 and serves also on eleven international editorial boards.
Finally, he has lived in seven countries on four continents bringing a truly international perspective to his endeavors.
Michael Snyder, USA (2014-2016 / Term 1)
Michael Snyder is the Stanford Ascherman Professor and Chair of Genetics and the Director of the Center of Genomics and Personalized Medicine. Dr. Snyder received his Ph.D. training at the California Institute of Technology and carried out postdoctoral training at Stanford University. He is a leader in the field of functional genomics and proteomics, and one of the major participants of the ENCODE project. His laboratory study was the first to perform a large-scale functional genomics project in any organism, and has launched many technologies in genomics and proteomics. These including the development of proteome chips, high resolution tiling arrays for the entire human genome, methods for global mapping of transcription factor binding sites (ChIP-chip now replaced by ChIP-seq), paired end sequencing for mapping of structural variation in eukaryotes, de novo genome sequencing of genomes using high throughput technologies and RNA-Seq. These technologies have been used for characterizing genomes, proteomes and regulatory networks. Seminal findings from the Snyder laboratory include the discovery that much more of the human genome is transcribed and contains regulatory information than was previously appreciated, and a high diversity of transcription factor binding occurs both between and within species. He has also combined different state-of–the-art “omics” technologies to perform the first longitudinal detailed integrative personal omics profile (iPOP) of person and used this to assess disease risk and monitor disease states for personalized medicine. He is a cofounder of several biotechnology companies, including Protometrix (now part of Life Tehcnologies), Affomix (now part of Illumina), Excelix, and Personalis, and he presently serves on the board of a number of companies.
Himla Soodyall, South Africa (2014-2016 / Term 1)
Currently a Medical Scientist and Associate Professor in the Division of Human Genetics, University of the Witwatersrand (Wits) and National Health Laboratory Service (NHLS). After completing post-doctoral research at Penn State University (USA) with Professor Mark Stoneking, Prof. Soodyall returned to South Africa in 1996 and set up her own research laboratory in Human Genetics at the NHLS. Between 2001-2012, the South African Medical Research Council set up the Human Genomic Diversity and Disease Research Unit under her directorship in partnership with Wits University and the NHLS. Prof. Soodyall's research has focused on using modern tools in genomics to advance studies on population history and migration within the African continent. She served as the PI, representing sub-Saharan Africa on the Genographic Project (2005-present), undertaken by the National Geographic Society in conjunction with IBM and the Waitt Family Foundation. She is currently on the Steering Committees for the Southern African Human Genome Programme (SAHGP), and the AWI Gen Project (H3Africa Project, jointly funded by the NIH and the Wellcome Trust). She is also a Council member of the Academy of Science of South Africa. She has been the recipient of numerous awards, including the Order of Mapungubwe (Bronze Medal), by President Mbeki in 2005.
Yik-Ying Teo, Singapore (2015-2017/ Term 1)
Associate Professor Yik-Ying Teo received DPhil from University of Oxford where he was supervised by Professor Peter Donnelly in area of statistical genetics. He spent next four years as postdoctoral research fellow at Wellcome Trust Center for Human Genetics. He was one of the lead analysts for Malaria Genomic Epidemiology Network, and also chaired Singapore Genome Variation Project. He works in area of genetic epidemiology and population genetics cohorts from: Africa, Europe and East Asia. He started Genomics Programme at National University of Singapore (NUS), which has progressed onto full programme with sub-themes in pathogen genomics, pharmacogenomics, population genetics and public health genomics. He currently chairs both Asian Diversity Project that surveys genetics of 46 Asian populations, and Singapore Integrative Omics Project which adopts systems biology approach to jointly study genomics, transcriptomics, lipidomics and deep phenotyping of Chinese, Malays and Asian Indians. He has received more than US$5M in research grants as a PI, and was conferred Young Scientist Award by National Academy of Sciences, as well as Singapore Youth Award-highest accolade accorded to a scientist below age of 35. He is also Vice Dean (Research), Director (Centre for Health Services and Policy Research) and Director (Centre for Infectious Disease Epidemiology and Research) at Saw Swee Hock School of Public Health (NUS).
Ambroise Wonkam, South Africa (2015-2017/ Term 1)
Prof Ambroise Wonkam is a specialist medical geneticist, associate professor/senior consultant in the Division of Human Genetics, Faculty of Health Sciences, and University of Cape Town, South Africa. After a MD training from the Faculty of Medicine and Biomedical Sciences, University of Yaoundé I (Cameroon), Dr Wonkam completed a thesis in Cell Biology in the department of Morphology, University of Geneva (Switzerland). He was awarded the 2003 Denber-Pinard Prize for the best thesis from the Faculty of Medicine, University of Geneva. Other salient aspects of Dr Wonkam’s background include his education as a medical geneticist at a highly reputable genetics department in Geneva (Switzerland). He subsequently practices medical genetics in both European and African contexts. Prof Wonkam interests are reflected in more than 60 peer-reviewed publications, which are in molecular, clinical educational and ethical aspects of medical genetics. His major research focuses on: 1) Psychosocial Burden and Genomics modifiers of Sickle cell disease; 2) Genetics of hearing loss among Africans. Prof Wonkam recently won the very competitive Clinical Genetics Society International Award for 2014, from the British Society of Genetic Medicine. Prof Wonkam is secretary of the African Society of Human Genetics, Board member of the International Federation of Human Genetics Societies and of the Southern African Society of Human genetics. His is also member of the steering committee of H3Africa consortium, leading specifically an NIH funded SCD project.
Ex Officio U.S. Federal Liaison
Charles Rotimi, USA (2016-2018 / Term 2)
Charles Rotimi, PhD, a genetic epidemiologist and a biochemist, is the Director of the NIH Center for Research on Genomics and Global Health (CRGGH) with the mission of advancing research into the role of culture, lifestyle, genetics and genomics in disease etiology, health disparities, and variable drug response. His team published the first genome-wide scan for hypertension and blood pressure in African Americans and for type 2 diabetes in West Africans. His lab contributes to the global understanding of human genetic variation by actively participating in the development of international genomic resources including the HapMap, the 1000 Genome and the African Genome Variation projects. He is on the Executive and Scientific Committee for the International Federation of Human Genetics Societies. He is the founding and past president of the African Society of Human Genetics (AfSHG). Recently, he successfully led the establishment of the Human Heredity and Health in Africa (H3Africa) initiative; with $38 million commitment from the NIH and Wellcome Trust, H3Africa will create and support network of labs that will conduct leading-edge research into the genetic and environmental determinants of diseases in Africans. He is on the Editorial Board of Public Health Genomics, Genome Medicine and Clinical Genetics.
Dr. Rotimi is serving in this role in his personal capacity, and none of the opinions or actions expressed or taken by him reflect the opinions or actions of the U.S. Government or the U.S. National Institutes of Health.